Influência da interação entre qualidade ambiental e o SNP T102C do gene HTR2A sobre a suscetibilidade à fibromialgia

Abstract

Objectives: This study aimed to investigate the genetic infl uence of the T102C polymorphism of the 2A serotonin receptor gene (HTR2A) and its interaction with environmental aspects, such as exposure to noise, traffi c, climate, and opportunities to acquire new information, physical protection, and security, among others, as possible risk factors for developing fi bromyalgia syndrome (FMS). Methods: Forty-one FMS patients and 49 controls were evaluated. Environmental factors were evaluated by application of the V domain of the WHOQOL-100 questionnaire. Patients were asked that their answers represented only the periods preceding the onset of symptoms. The T102C variant of the HTR2A gene was determined through PCR/RFLP. Results: Among patients, the frequency of carriers of the 102C allele was higher than in controls (76.5% vs. 50%; P = 0.028). The scores of the V domain were lower in patients than in controls, indicating a worst perception of the environmental quality by patients (P < 0.001). The factor "lack of opportunities for acquiring new information and skills" increased the chance of developing FMS by almost 14-fold (P = 0.009). The factor "low quality of social care and health" together with the presence of the 102C allele also increased this chance by more than 90-fold (P = 0.005). However, carriers of the same allele who have high quality social care and health are not at a higher risk to develop FMS. Conclusion: These data suggest that these factors may predispose to FMS, especially in carriers of the 102C allele. However, studies with larger samples are required to confi rm this hypothesis.

Etiopathogenesis of Fibromyalgia

“…Several studies have shown that specific genes related to the serotonergic system are also involved in the pathogenesis of FM. The frequency of carriers of the 102C allele of the 2A serotonin receptor gene (HTR2A) was significantly higher in patients with FM than in the control group, and FM patients had worse perceptions of environmental factors [20]. A meta-analysis also confirmed that the 102T/C polymorphism of the 5-HT2A receptor was linked to FM [21].…”

Lower limb muscle strength and serotonin receptor gene polymorphism as factors associated in women with fibromyalgia

“…Mergener et al [21] analyzed the influence of the interaction between environmental quality and the SNP in the gene HTR2A 102 T/C on the susceptibility of developing fibromyalgia in 41 patients with fibromyalgia and 49 control individuals, and showed that carriers of the C allele summed up to the variable low quality of health and social care, presented a risk 90 times greater of developing the syndrome (p = 0.005).…”

“…There is need for further investigations to a better understanding of the role of polymorphism in the serotonin receptor gene HTR2A in origin and/or severity of fibromyalgia. Lee et al [20] and Mergener et al [21] found an association between fibromyalgia and the polymorphism of the gene 102 T/C, demonstrating that the carriers of the C allele present higher risk for the development of the syndrome. However, studies like those of Tander et al [26] and Matsuda et al [27] found no statistically significant relationship among the polymorphisms 102 T/C and -1438A/G and fibromyalgia.…”

“…Studies demonstrate that the serotonin receptor gene HTR2A located on the long arm of chromosome 13 (13q14-q21), presents certain genetic polymorphisms. One of them, located in the promoter region − 1438(A > G) RS6311, has been associated with some diseases such as rheumatoid arthritis and fibromyalgia [18][19][20][21]. It should be emphasized that this polymorphism is a TagSNP and is in a perfect linkage disequilibrium with other SNPs, namely, 102 T/C (rs6313), −1420C/T (rs6306) and -783A/G (rs6312) [22].…”

Eficácia dos antidepressivos na fibromialgia: uma análise crítica a partir de dados raramente encontrados nos artigos científicos

“…Há evidências que polimorfismos não específicos em circuitos serotoninérgicos, dopaminérgicos, ou ainda catecolaminérgicos, estejam ligados à etiopatogenia da doença (MATSUDA et al, 2010). Recentemente, Mergener relatou um provável efeito do SNPT102C no gene do receptor HTR2A no metabolismo da 5-HT, mas ainda faltam estudos para explicar todos os genes envolvidos na fisiopatologia da doença (MERGENER et al, 2011…”